ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1340G>A (p.Arg447Gln) (rs760676955)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219262 SCV000273980 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000219262 SCV000687301 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-05 criteria provided, single submitter clinical testing
Invitae RCV000555662 SCV000622247 uncertain significance Ataxia-telangiectasia syndrome 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 447 of the ATM protein (p.Arg447Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs760676955, ExAC 0.02%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 230430). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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